Incidental Mutation 'R4296:Itga4'
| ID |
323294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga4
|
| Ensembl Gene |
ENSMUSG00000027009 |
| Gene Name |
integrin alpha 4 |
| Synonyms |
VLA-4 receptor, alpha 4 subunit |
| MMRRC Submission |
041656-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4296 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
79085770-79163467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79103143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 111
(G111R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099972
AA Change: G111R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: G111R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Int_alpha
|
48 |
108 |
5.14e-7 |
SMART |
|
Int_alpha
|
191 |
241 |
3.45e1 |
SMART |
|
Int_alpha
|
247 |
300 |
1.89e-5 |
SMART |
|
Int_alpha
|
302 |
358 |
2.25e-12 |
SMART |
|
Int_alpha
|
364 |
419 |
1.45e-15 |
SMART |
|
Int_alpha
|
426 |
483 |
4.52e-3 |
SMART |
|
SCOP:d1m1xa2
|
627 |
770 |
1e-35 |
SMART |
|
Blast:Int_alpha
|
639 |
676 |
9e-16 |
BLAST |
|
SCOP:d1m1xa3
|
773 |
948 |
7e-42 |
SMART |
|
transmembrane domain
|
978 |
1000 |
N/A |
INTRINSIC |
|
PDB:4HKC|B
|
1003 |
1032 |
1e-13 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141094
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit embryonic lethality either due to failure of chorioallantoic fusion or cardiac abnormalities, including hemorrhage around the heart and defects in epicardium formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
T |
19: 43,811,513 (GRCm39) |
G993C |
probably damaging |
Het |
| Abcc2 |
G |
C |
19: 43,811,514 (GRCm39) |
G993A |
probably damaging |
Het |
| Abi3bp |
A |
T |
16: 56,488,673 (GRCm39) |
H810L |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,641 (GRCm39) |
D5G |
probably benign |
Het |
| Aldh7a1 |
A |
T |
18: 56,678,035 (GRCm39) |
|
probably null |
Het |
| Aox1 |
T |
A |
1: 58,096,559 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
G |
T |
7: 105,223,033 (GRCm39) |
Q193K |
probably benign |
Het |
| Arl9 |
C |
A |
5: 77,154,396 (GRCm39) |
N41K |
probably damaging |
Het |
| Armc1 |
A |
G |
3: 19,203,680 (GRCm39) |
M82T |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,381,960 (GRCm39) |
E526G |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,285,922 (GRCm39) |
R809C |
probably damaging |
Het |
| Cd200r1 |
T |
C |
16: 44,610,033 (GRCm39) |
I84T |
probably damaging |
Het |
| Cgrrf1 |
T |
C |
14: 47,069,812 (GRCm39) |
V27A |
probably damaging |
Het |
| Clec4f |
G |
A |
6: 83,629,557 (GRCm39) |
Q334* |
probably null |
Het |
| Cpeb3 |
C |
T |
19: 37,151,389 (GRCm39) |
G329D |
possibly damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,661,490 (GRCm39) |
|
probably null |
Het |
| Dip2b |
A |
T |
15: 100,079,217 (GRCm39) |
M810L |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,908,773 (GRCm39) |
S158P |
probably damaging |
Het |
| Eps8l2 |
G |
T |
7: 140,938,175 (GRCm39) |
E470* |
probably null |
Het |
| Flt3l |
A |
G |
7: 44,783,428 (GRCm39) |
F146S |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
| Gm11360 |
T |
A |
13: 28,140,295 (GRCm39) |
I53N |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,444,656 (GRCm39) |
V275D |
possibly damaging |
Het |
| Harbi1 |
T |
A |
2: 91,543,100 (GRCm39) |
M187K |
possibly damaging |
Het |
| Has3 |
T |
C |
8: 107,605,054 (GRCm39) |
V420A |
possibly damaging |
Het |
| Huwe1 |
C |
A |
X: 150,671,444 (GRCm39) |
T1012K |
probably benign |
Het |
| Iqcg |
G |
A |
16: 32,837,345 (GRCm39) |
|
probably benign |
Het |
| Keap1 |
A |
G |
9: 21,145,282 (GRCm39) |
S243P |
probably damaging |
Het |
| Kmt2a |
C |
T |
9: 44,732,472 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,806,610 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
C |
T |
8: 120,249,238 (GRCm39) |
C684Y |
possibly damaging |
Het |
| Mcm3ap |
A |
T |
10: 76,343,171 (GRCm39) |
I1688F |
probably damaging |
Het |
| Midn |
C |
T |
10: 79,987,553 (GRCm39) |
T21I |
probably damaging |
Het |
| Naf1 |
C |
T |
8: 67,342,114 (GRCm39) |
P580S |
possibly damaging |
Het |
| Nherf4 |
G |
A |
9: 44,160,158 (GRCm39) |
R349C |
probably benign |
Het |
| Nlrp3 |
A |
T |
11: 59,440,487 (GRCm39) |
E688V |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,470,129 (GRCm39) |
H259R |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,310,284 (GRCm39) |
T516A |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,017,230 (GRCm39) |
T275S |
probably damaging |
Het |
| Ogdh |
T |
G |
11: 6,299,374 (GRCm39) |
F743V |
probably damaging |
Het |
| Or5aq6 |
T |
C |
2: 86,922,974 (GRCm39) |
T256A |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or6c215 |
C |
A |
10: 129,638,169 (GRCm39) |
C75F |
probably damaging |
Het |
| Or6c75 |
C |
A |
10: 129,337,339 (GRCm39) |
C195* |
probably null |
Het |
| Or9i1b |
A |
G |
19: 13,896,717 (GRCm39) |
E111G |
probably damaging |
Het |
| Peg10 |
GGAT |
GGATCCCCATCATGAT |
6: 4,756,472 (GRCm39) |
|
probably benign |
Het |
| Piezo1 |
T |
A |
8: 123,217,866 (GRCm39) |
Y819F |
probably damaging |
Het |
| Plekhg2 |
C |
A |
7: 28,070,591 (GRCm39) |
G20C |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,881,663 (GRCm39) |
T997A |
possibly damaging |
Het |
| Polr3a |
T |
A |
14: 24,503,264 (GRCm39) |
Q1190L |
possibly damaging |
Het |
| Ppp1r15a |
T |
A |
7: 45,173,173 (GRCm39) |
K800* |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,555,769 (GRCm39) |
M2181K |
probably damaging |
Het |
| Pskh1 |
C |
A |
8: 106,639,536 (GRCm39) |
A72E |
probably benign |
Het |
| Purg |
T |
C |
8: 33,877,321 (GRCm39) |
Y320H |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,988,034 (GRCm39) |
|
probably null |
Het |
| Rnps1 |
T |
A |
17: 24,644,089 (GRCm39) |
|
probably benign |
Het |
| Scgb2b21 |
A |
T |
7: 33,219,233 (GRCm39) |
V57E |
probably benign |
Het |
| Sdhaf2 |
A |
T |
19: 10,502,439 (GRCm39) |
I7N |
probably benign |
Het |
| Six4 |
A |
G |
12: 73,150,899 (GRCm39) |
Y549H |
probably damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,064,772 (GRCm39) |
V209F |
possibly damaging |
Het |
| Slc4a11 |
C |
A |
2: 130,526,927 (GRCm39) |
V734F |
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,959,904 (GRCm39) |
M27K |
possibly damaging |
Het |
| Tecrl |
A |
T |
5: 83,461,174 (GRCm39) |
C79* |
probably null |
Het |
| Tgm3 |
G |
T |
2: 129,880,333 (GRCm39) |
V380L |
possibly damaging |
Het |
| Tiam2 |
A |
T |
17: 3,501,120 (GRCm39) |
M920L |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,968,237 (GRCm39) |
N729S |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,511,581 (GRCm39) |
L223P |
probably damaging |
Het |
| Tmem268 |
T |
C |
4: 63,484,005 (GRCm39) |
|
probably null |
Het |
| Tmpo |
A |
T |
10: 90,998,818 (GRCm39) |
I323K |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,440,549 (GRCm39) |
S302G |
probably benign |
Het |
| Trip11 |
C |
A |
12: 101,852,127 (GRCm39) |
E361* |
probably null |
Het |
| Tspyl3 |
T |
A |
2: 153,067,076 (GRCm39) |
N54I |
possibly damaging |
Het |
| Upp2 |
A |
T |
2: 58,668,021 (GRCm39) |
Y220F |
probably damaging |
Het |
| Usp22 |
G |
T |
11: 61,052,290 (GRCm39) |
|
probably null |
Het |
| Vezt |
ACTCCTCCT |
ACTCCT |
10: 93,809,793 (GRCm39) |
|
probably benign |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,562 (GRCm39) |
G296W |
probably damaging |
Het |
| Vmn1r89 |
T |
C |
7: 12,954,113 (GRCm39) |
V94A |
possibly damaging |
Het |
| Zfp607a |
A |
T |
7: 27,565,073 (GRCm39) |
E80V |
probably damaging |
Het |
|
| Other mutations in Itga4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Itga4
|
APN |
2 |
79,122,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01317:Itga4
|
APN |
2 |
79,153,005 (GRCm39) |
nonsense |
probably null |
|
|
IGL01545:Itga4
|
APN |
2 |
79,146,314 (GRCm39) |
splice site |
probably benign |
|
|
IGL01570:Itga4
|
APN |
2 |
79,152,978 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01575:Itga4
|
APN |
2 |
79,118,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01837:Itga4
|
APN |
2 |
79,145,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01974:Itga4
|
APN |
2 |
79,103,471 (GRCm39) |
splice site |
probably benign |
|
|
IGL02087:Itga4
|
APN |
2 |
79,122,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02245:Itga4
|
APN |
2 |
79,150,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02492:Itga4
|
APN |
2 |
79,086,001 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02809:Itga4
|
APN |
2 |
79,110,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02998:Itga4
|
APN |
2 |
79,108,165 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03008:Itga4
|
APN |
2 |
79,155,982 (GRCm39) |
missense |
probably benign |
|
|
IGL03282:Itga4
|
APN |
2 |
79,155,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03285:Itga4
|
APN |
2 |
79,109,510 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03286:Itga4
|
APN |
2 |
79,119,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Itga4
|
UTSW |
2 |
79,156,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0045:Itga4
|
UTSW |
2 |
79,131,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Itga4
|
UTSW |
2 |
79,151,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0554:Itga4
|
UTSW |
2 |
79,109,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Itga4
|
UTSW |
2 |
79,155,983 (GRCm39) |
missense |
probably benign |
|
|
R0785:Itga4
|
UTSW |
2 |
79,119,649 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0787:Itga4
|
UTSW |
2 |
79,109,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1013:Itga4
|
UTSW |
2 |
79,150,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1237:Itga4
|
UTSW |
2 |
79,109,490 (GRCm39) |
missense |
probably null |
0.08 |
|
R1295:Itga4
|
UTSW |
2 |
79,153,033 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1471:Itga4
|
UTSW |
2 |
79,117,376 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1559:Itga4
|
UTSW |
2 |
79,146,032 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1769:Itga4
|
UTSW |
2 |
79,146,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1931:Itga4
|
UTSW |
2 |
79,144,188 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2012:Itga4
|
UTSW |
2 |
79,108,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2241:Itga4
|
UTSW |
2 |
79,131,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3793:Itga4
|
UTSW |
2 |
79,109,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4133:Itga4
|
UTSW |
2 |
79,152,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4204:Itga4
|
UTSW |
2 |
79,109,505 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4777:Itga4
|
UTSW |
2 |
79,144,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4906:Itga4
|
UTSW |
2 |
79,118,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Itga4
|
UTSW |
2 |
79,103,378 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5087:Itga4
|
UTSW |
2 |
79,145,973 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5212:Itga4
|
UTSW |
2 |
79,110,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5213:Itga4
|
UTSW |
2 |
79,150,920 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5421:Itga4
|
UTSW |
2 |
79,146,385 (GRCm39) |
nonsense |
probably null |
|
|
R5549:Itga4
|
UTSW |
2 |
79,086,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5907:Itga4
|
UTSW |
2 |
79,153,000 (GRCm39) |
missense |
probably benign |
|
|
R5917:Itga4
|
UTSW |
2 |
79,117,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Itga4
|
UTSW |
2 |
79,109,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Itga4
|
UTSW |
2 |
79,155,958 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6787:Itga4
|
UTSW |
2 |
79,119,609 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6790:Itga4
|
UTSW |
2 |
79,155,958 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7051:Itga4
|
UTSW |
2 |
79,148,470 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7311:Itga4
|
UTSW |
2 |
79,086,526 (GRCm39) |
missense |
probably benign |
|
|
R7520:Itga4
|
UTSW |
2 |
79,131,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Itga4
|
UTSW |
2 |
79,103,337 (GRCm39) |
missense |
probably benign |
|
|
R7636:Itga4
|
UTSW |
2 |
79,144,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7889:Itga4
|
UTSW |
2 |
79,146,389 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8123:Itga4
|
UTSW |
2 |
79,146,027 (GRCm39) |
missense |
probably benign |
|
|
R8284:Itga4
|
UTSW |
2 |
79,151,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8445:Itga4
|
UTSW |
2 |
79,112,125 (GRCm39) |
missense |
probably benign |
|
|
R8553:Itga4
|
UTSW |
2 |
79,131,405 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8696:Itga4
|
UTSW |
2 |
79,112,125 (GRCm39) |
missense |
probably benign |
|
|
R8900:Itga4
|
UTSW |
2 |
79,145,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Itga4
|
UTSW |
2 |
79,085,938 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R9359:Itga4
|
UTSW |
2 |
79,156,004 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9403:Itga4
|
UTSW |
2 |
79,156,004 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCTTGTGTGGAGAACAAC -3'
(R):5'- GTGCCCACAAGTCTGGATAAAAC -3'
Sequencing Primer
(F):5'- CAACTGTGTTTGCAGAGAGC -3'
(R):5'- CACAAGTCTGGATAAAACAAAAAGTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation